Shprintzen-Goldberg syndrome: a clinical analysis.

Shprintzen-Goldberg syndrome is one of a group of disorders characterized by craniosynostosis and marfanoid habitus. Eleven cases were reported previously. We present 4 new patients and review one of the patients of the original report of Shprintzen and Goldberg [1982: J Craniofac Genet Dev Biol 2:65-74], 15 years later. The clinical and radiologic findings on our patients are compared with those of the previously reported patients and also with those of Furlong et al. [1987: Am J Med Genet 26:599-604] and Lacombe and Battin [1993: Clin Dysmorphol 2: 220-224], who share many of the characteristics of Shprintzen-Goldberg syndrome. Some of the clinical data are helpful in determining if the patients of Furlong et al. [1987: Am J Med Genet 26:599-604] and Lacombe and Battin [1993: Clin Dysmorphol 2: 220-224] have a separate syndrome or represent a variant of Shprintzen-Goldberg syndrome. However, radiologic investigations appear to be more specific, since an abnormality of the first and second cervical vertebrae, hydrocephalus, dilatation of the lateral ventricles, and a Chiari-I malformation of the brain were found only in the patients with Shprintzen-Goldberg syndrome. The apparently diagnostic findings of the 15 patients with this syndrome may be helpful in differentiating between Shprintzen-Goldberg syndrome and other syndromes with craniosynostosis and marfanoid habitus.

[1]  S. Davies,et al.  A clinical severity grading scale for Marfan syndrome. , 1996, Journal of medical genetics.

[2]  P. Byers,et al.  Delineation of the Marfan phenotype associated with mutations in exons 23-32 of the FBN1 gene. , 1996, American journal of medical genetics.

[3]  H. Dietz,et al.  Mutation in fibrillin-1 and the Marfanoid-craniosynostosis (Shprintzen-Goldberg) syndrome , 1996, Nature Genetics.

[4]  K. Méhes,et al.  Syndrome of arachnodactyly, disturbance of cranial ossification, protruding eyes, feeding difficulties, and mental retardation. , 1995, American journal of medical genetics.

[5]  E. Haan,et al.  Distinct skeletal abnormalities in four girls with Shprintzen-Goldberg syndrome. , 1995, American journal of medical genetics.

[6]  H. Saal,et al.  Patient with craniosynostosis and marfanoid phenotype (Shprintzen-Goldberg syndrome) and cloverleaf skull. , 1995, American journal of medical genetics.

[7]  D. Lacombe,et al.  Marfanoid features and craniosynostosis: report of one case and review , 1993, Clinical dysmorphology.

[8]  M. Bull,et al.  Antley-Bixler syndrome from a prognostic perspective: report of a case and review of the literature. , 1988, American journal of medical genetics.

[9]  T. Kurczynski,et al.  New Marfanoid syndrome with craniosynostosis. , 1987, American journal of medical genetics.

[10]  P. Byers,et al.  Marfan syndrome: defective synthesis, secretion, and extracellular matrix formation of fibrillin by cultured dermal fibroblasts. , 1992, The Journal of clinical investigation.

[11]  M. Cohen,et al.  Craniosynostosis update 1987. , 1988, American journal of medical genetics. Supplement.

[12]  S. Pruzansky,et al.  Craniosynostosis : diagnosis, evaluation, and management , 1986 .

[13]  Shprintzen Rj,et al.  A recurrent pattern syndrome of craniosynostosis associated with arachnodactyly and abdominal hernias. , 1982 .

[14]  M. Cohen.  Craniosynostosis and syndromes with craniosynostosis: incidence, genetics, penetrance, variability, and new syndrome updating. , 1979, Birth defects original article series.

[15]  D. Bixler,et al.  Trapezoidocephaly, midfacial hypoplasia and cartilage abnormalities with multiple synostoses and skeletal fractures. , 1975, Birth defects original article series.